Fanconi anemia: from DNA repair to metabolism
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/s41431-017-0046-6.pdf
Reference10 articles.
1. Dufour C. How I manage patients with Fanconi anaemia. Br J Haematol. 2017;178:32–47.
2. Cappelli E, Ravera S, Vaccaro D, et al. Mitochondrial respiratory complex I defects in Fanconi anemia. Trends Mol Med. 2013;19:513–4.
3. Cheung RS, Taniguchi T. Recent insights into the molecular basis of Fanconi anemia: genes, modifiers, and drivers. Int J Hematol. 2017;106:335–44.
4. Abu-Libdeh B, Douiev L, Amro S, et al. Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia. Eur J Hum Genet. 2017. https://doi.org/10.1038/ejhg.2017.112 .
5. Ponte F, Sousa R, Fernandes AP, et al. Improvement of genetic stability in lymphocytes from Fanconi anemia patients through the combined effect of α-lipoic acid and N-acetylcysteine. Orphanet J Rare Dis. 2012;7:28.
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